Canonical Allele Identifier: CA380058716
Gene: FANCF HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.22625215T>A , CM000673.2:g.22625215T>A GRCh38
NC_000011.9:g.22646761T>A , CM000673.1:g.22646761T>A GRCh37
NC_000011.8:g.22603337T>A NCBI36
NG_007425.1:g.5627A>T , LRG_527:g.5627A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000327470.6:c.596A>T MANE Select ENSP00000330875.3:p.Asn199Ile
ENST00000327470.4:c.596A>T ENSP00000330875.3:p.Asn199Ile
NM_022725.3:c.596A>T , LRG_527t1:c.596A>T NP_073562.1:p.Asn199Ile
NM_022725.4:c.596A>T MANE Select NP_073562.1:p.Asn199Ile